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ENGaucher Disease, Type Iiic (GD3C)
Alias:
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gaucher-Like Disease
Gd3c
Cardiovascular Gaucher Disease
Gaucher's Disease Type Iiic
Gaucher Disease Type 3c
Pseudo-Gaucher Disease
Gaucher Disease 3c
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Gaucher Disease, Type Iiic, also known as gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, is related to gaucher disease, type i and gaucher disease, type ii. An important gene associated with Gaucher Disease, Type Iiic is GBA1 (Glucosylceramidase Beta 1), and among its related pathways/superpathways are Sphingolipid metabolism and Degradation pathway of sphingolipids, including diseases. Affiliated tissues include eye and bone marrow, and related phenotypes are corneal opacity and thrombocytopenia
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MALACARDS
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